ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.301A>G (p.Met101Val) (rs869312825)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480671 SCV000571181 likely pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing The M101V variant in the GNB1 gene has been reported previously as a de novo variant in two unrelated individuals with developmental delay and seizures (Petrovski et al., 2016). The M101V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M101V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The M101V variant is a strong candidate for a pathogenic variant.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000225171 SCV000803707 pathogenic Mental retardation, autosomal dominant 42 2018-02-21 criteria provided, single submitter clinical testing
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center RCV000210283 SCV000266339 pathogenic Global developmental delay; Expressive language delay; Seizures; Focal seizures with impairment of consciousness or awareness; Intellectual disability; Generalized tonic-clonic seizures; Developmental regression; Multifocal epileptiform discharges; EEG with generalized epileptiform discharges; Muscular hypotonia 2016-02-10 no assertion criteria provided research
OMIM RCV000225171 SCV000282065 pathogenic Mental retardation, autosomal dominant 42 2016-08-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755056 SCV000882872 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research
GeneReviews RCV000225171 SCV001478311 pathogenic Mental retardation, autosomal dominant 42 2020-02-26 no assertion criteria provided literature only

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